Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency

Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency

Cytosolic isoleucyl-tRNA synthetase (IARS1) deficiency, an exceptionally rare autosomal recessive inherited disorder, is characterized by multiple system involvement, including growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. Pulmonary alveolar proteinosis (PAP) i...

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Bibliographic Details
Main Authors: Jie Wu, Yimu Fan, Feng Huo, Jie Deng, Quan Wang, Yuelin Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pharmacology
Subjects:
IARS1 gene
pulmonary alveolar proteinosis (PAP)
infant
gene muatation
case repoort
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1487993/full
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